Incidental Mutation 'R5096:Inpp5e'
| ID |
388017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5e
|
| Ensembl Gene |
ENSMUSG00000026925 |
| Gene Name |
inositol polyphosphate-5-phosphatase E |
| Synonyms |
1200002L24Rik, 72kDa |
| MMRRC Submission |
042685-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5096 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26289537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 482
(N482K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076431]
[ENSMUST00000114090]
[ENSMUST00000145701]
|
| AlphaFold |
Q9JII1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076431
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114090
AA Change: N482K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
AA Change: N482K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131109
|
| SMART Domains |
Protein: ENSMUSP00000118739
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
4 |
88 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144011
AA Change: N168K
|
| SMART Domains |
Protein: ENSMUSP00000123272
Gene: ENSMUSG00000026925
AA Change: N168K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
IPPc
|
21 |
206 |
1.76e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145701
AA Change: N482K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: N482K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150907
|
| Meta Mutation Damage Score |
0.9637 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
95% (61/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
| Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
| Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
| AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
| Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,274,911 (GRCm39) |
E76K |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
| D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
| Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
| Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,278,713 (GRCm39) |
V391I |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,197 (GRCm39) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
| Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,398,451 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,340,082 (GRCm39) |
C407S |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
probably damaging |
Het |
|
| Other mutations in Inpp5e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Inpp5e
|
APN |
2 |
26,298,533 (GRCm39) |
missense |
probably benign |
|
|
IGL00943:Inpp5e
|
APN |
2 |
26,290,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL01518:Inpp5e
|
APN |
2 |
26,287,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Inpp5e
|
UTSW |
2 |
26,298,352 (GRCm39) |
splice site |
probably null |
|
|
R1818:Inpp5e
|
UTSW |
2 |
26,287,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1876:Inpp5e
|
UTSW |
2 |
26,298,169 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2508:Inpp5e
|
UTSW |
2 |
26,289,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Inpp5e
|
UTSW |
2 |
26,290,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4647:Inpp5e
|
UTSW |
2 |
26,297,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4668:Inpp5e
|
UTSW |
2 |
26,291,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4895:Inpp5e
|
UTSW |
2 |
26,287,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Inpp5e
|
UTSW |
2 |
26,290,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Inpp5e
|
UTSW |
2 |
26,289,383 (GRCm39) |
splice site |
probably null |
|
|
R5830:Inpp5e
|
UTSW |
2 |
26,290,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Inpp5e
|
UTSW |
2 |
26,297,860 (GRCm39) |
nonsense |
probably null |
|
|
R6899:Inpp5e
|
UTSW |
2 |
26,290,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6939:Inpp5e
|
UTSW |
2 |
26,297,774 (GRCm39) |
splice site |
probably null |
|
|
R7003:Inpp5e
|
UTSW |
2 |
26,287,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7164:Inpp5e
|
UTSW |
2 |
26,297,995 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7275:Inpp5e
|
UTSW |
2 |
26,298,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7285:Inpp5e
|
UTSW |
2 |
26,287,870 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7468:Inpp5e
|
UTSW |
2 |
26,298,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Inpp5e
|
UTSW |
2 |
26,297,957 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Inpp5e
|
UTSW |
2 |
26,286,865 (GRCm39) |
missense |
|
|
|
R8146:Inpp5e
|
UTSW |
2 |
26,289,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9227:Inpp5e
|
UTSW |
2 |
26,288,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Inpp5e
|
UTSW |
2 |
26,287,940 (GRCm39) |
missense |
probably benign |
|
|
R9706:Inpp5e
|
UTSW |
2 |
26,292,126 (GRCm39) |
missense |
probably benign |
0.21 |
|
RF002:Inpp5e
|
UTSW |
2 |
26,298,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0061:Inpp5e
|
UTSW |
2 |
26,292,159 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATCTCTGCCTCCTCAAAGC -3'
(R):5'- TACCCAGCTGCGATTCTGTC -3'
Sequencing Primer
(F):5'- TGAAGATGGACCCTGCAAC -3'
(R):5'- CAGCTGCGATTCTGTCTGGAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation